Cancer susceptibility genes. How strong is the evidence?

Event Date: 
Thursday, 24 May, 2018 - 13:00
Prof John O'Quigley, Sorbonne University, Paris, France

We consider the case of a 25-year old carrier of the breast cancer susceptibility genes; BRCA1 and BRCA2. On the basis of observed mutations it is believed that the carrier has an 87% chance of developing breast cancer. Currently, the most commonly prescribed treatment is for a double mastectomy. The popularity of this procedure has increased greatly over the last twenty years; so much so that many leading clinics in the U.S. have a waiting list in order to be tested. New genes are being discovered all the time and, many more than just BRCA1 and BRCA2 are believed to be susceptibility genes for breast cancer. It has been suggested that whole populations be screened in order to detect those individuals at increased
risk of particular cancers. This is not feasible at present and the question remains of what action to take following a positive test. In this talk we consider some of the methodology behind this work. Does preventive surgery make sense for a carrier? Does it make any sense to get tested in the first place?

About IBMI

Institute for Biostatistics and Medical Informatics (IBMI), formerly Institute for BioMedical Informatics (so still IBMI) was founded by the Faculty of Medicine as a result of a need for a unit which would perform, or coordinate, tasks related to data analysis and providing information, relevant for research in medicine. The programme of the institute, and its development, have been adjusting thorugh time to changes in financing and technological progress, but the basic aim remain the same: to support research in medicine. This is achieved through the following tasks:


Institute for Biostatistics and Medical Informatics
University of Ljubljana, Faculty of Medicine
Vrazov trg 2, 1000 Ljubljana

tel: +386 1 543-77-70
fax: +386 1 543-77-71
email: ibmi (at)